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Updated: May 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation sequencing data interpretation: enhancing reproducibility and accessibility
Anton Nekrutenko1, James Taylor
1Huck Institutes of the Life Sciences and the Department of Biochemistry and Molecular Biology, Penn State University, Wartik 505, University Park, Pennsylvania 16802, USA. anton@bx.psu.edul
Abstract:
Areas of life sciences research that were previously distant from each other in ideology, analysis practices and toolkits, such as microbial ecology and personalized medicine, have all embraced techniques that rely on next-generation sequencing instruments. Yet the capacity to generate the data greatly outpaces our ability to analyse it. Existing sequencing technologies are more mature and accessible than the methodologies that are available for individual researchers to move, store, analyse and present data in a fashion that is transparent and reproducible. Here we discuss currently pressing issues with analysis, interpretation, reproducibility and accessibility of these data, and we present promising solutions and venture into potential future developments.
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